Variant report

Variant	esv3339103
Chromosome Location	chr10:42644246-42647544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr10:42647046-42647301	GM12878	blood:	n/a	n/a
2	BHLHE40	chr10:42647458-42647722	HepG2	liver:	n/a	n/a
3	EBF1	chr10:42646996-42647288	GM12878	blood:	n/a	n/a
4	ELF1	chr10:42645170-42645537	GM12878	blood:	n/a	n/a
5	EP300	chr10:42647051-42647312	GM12878	blood:	n/a	n/a
6	EP300	chr10:42647538-42648048	GM12878	blood:	n/a	n/a
7	FOXA1	chr10:42647002-42647743	HepG2	liver:	n/a	n/a
8	GATA2	chr10:42646799-42647320	K562	blood:	n/a	n/a
9	GATA2	chr10:42647328-42647575	K562	blood:	n/a	n/a
10	MAFF	chr10:42645171-42645365	HepG2	liver:	n/a	n/a
11	MAFK	chr10:42645155-42645374	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:42646063-42646091	K562	blood:	n/a	n/a
13	POU2F2	chr10:42647036-42647200	GM12878	blood:	n/a	n/a
14	POU2F2	chr10:42646994-42647311	GM12878	blood:	n/a	n/a
15	RXRA	chr10:42647539-42648088	HepG2	liver:	n/a	n/a
16	RXRA	chr10:42646349-42646691	HepG2	liver:	n/a	n/a
17	SIN3AK20	chr10:42647048-42647305	HepG2	liver:	n/a	n/a
18	SIN3AK20	chr10:42647073-42647205	HepG2	liver:	n/a	n/a
19	SIX5	chr10:42647349-42647764	GM12878	blood:	n/a	n/a
20	SIX5	chr10:42646898-42647242	GM12878	blood:	n/a	n/a
21	SIX5	chr10:42647008-42647289	K562	blood:	n/a	n/a
22	SIX5	chr10:42646356-42646641	K562	blood:	n/a	n/a
23	SIX5	chr10:42646417-42646770	K562	blood:	n/a	n/a
24	SP1	chr10:42647453-42648057	GM12878	blood:	n/a	n/a
25	SP1	chr10:42646690-42647319	GM12878	blood:	n/a	n/a
26	TAF1	chr10:42647041-42647244	Hela-S3	cervix:	n/a	n/a
27	TCF3	chr10:42646779-42647308	GM12878	blood:	n/a	n/a
28	USF1	chr10:42646430-42646558	HepG2	liver:	n/a	n/a
29	USF1	chr10:42647122-42647257	HepG2	liver:	n/a	n/a
30	ZBTB33	chr10:42646995-42647325	HepG2	liver:	n/a	n/a
31	ZBTB33	chr10:42644775-42645025	K562	blood:	n/a	n/a
32	ZBTB33	chr10:42646484-42646712	K562	blood:	n/a	n/a
33	ZBTB33	chr10:42646811-42646993	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42646111-42646161	HPAEpiC	pulmonary alveolar:	n/a
2	chr10:42645466-42645516	MCF-7	breast:	n/a
3	chr10:42644887-42644937	HCPEpiC	choroid plexus:	n/a
4	chr10:42646111-42646161	H1-hESC	embryonic stem cell:	embryo
5	chr10:42645466-42645516	PFSK-1	brain:	n/a
6	chr10:42646111-42646161	HNPCEpiC	eye:	n/a
7	chr10:42644887-42644937	HEK293	kidney:	embryo
8	chr10:42644887-42644937	HIPEpiC	eye:	n/a
9	chr10:42644887-42644937	Hela-S3	cervix:	n/a
10	chr10:42645466-42645516	HRE	kidney:	n/a
11	chr10:42646111-42646161	HL-60	blood:	n/a
12	chr10:42645466-42645516	NH-A	brain:	n/a
13	chr10:42645466-42645516	ECC-1	luminal epithelium:	n/a
14	chr10:42644887-42644937	NHBE	bronchial:	n/a
15	chr10:42646111-42646161	Caco-2	colon:	n/a
16	chr10:42644887-42644937	T-47D	breast:	n/a
17	chr10:42644887-42644937	HCT-116	colon:	n/a
18	chr10:42644887-42644937	BJ	skin:	n/a
19	chr10:42645466-42645516	Jurkat	blood:	n/a
20	chr10:42645466-42645516	Caco-2	colon:	n/a
21	chr10:42646111-42646161	HUVEC	blood vessel:	n/a
22	chr10:42645466-42645516	HepG2	liver:	n/a
23	chr10:42644887-42644937	Hepatocyte	liver:	n/a
24	chr10:42644887-42644937	HRPEpiC	eye:	n/a
25	chr10:42644887-42644937	NB4	blood:	n/a
26	chr10:42646111-42646161	IMR90	lung:	fetal
27	chr10:42646111-42646161	BJ	skin:	n/a
28	chr10:42645466-42645516	NT2-D1	testis:	n/a
29	chr10:42644887-42644937	HNPCEpiC	eye:	n/a
30	chr10:42644887-42644937	HepG2	liver:	n/a
31	chr10:42646111-42646161	Hepatocyte	liver:	n/a
32	chr10:42645466-42645516	HL-60	blood:	n/a
33	chr10:42646111-42646161	ovcar-3	ovarian:	n/a
34	chr10:42646111-42646161	HIPEpiC	eye:	n/a
35	chr10:42646111-42646161	PFSK-1	brain:	n/a
36	chr10:42645466-42645516	HRCEpiC	kidney:	n/a
37	chr10:42644887-42644937	AG09309	skin:	n/a
38	chr10:42645466-42645516	AG10803	skin:	n/a
39	chr10:42646111-42646161	GM06990	blood:	n/a
40	chr10:42645466-42645516	A549	lung:	n/a
41	chr10:42646111-42646161	NHDF-neo	bronchial:	n/a
42	chr10:42645466-42645516	GM19239	blood:	n/a
43	chr10:42645466-42645516	HMEC	breast:	n/a
44	chr10:42644887-42644937	HMEC	breast:	n/a
45	chr10:42646111-42646161	AG10803	skin:	n/a
46	chr10:42645466-42645516	HEK293	kidney:	embryo
47	chr10:42646111-42646161	HCT-116	colon:	n/a
48	chr10:42645466-42645516	AG09309	skin:	n/a
49	chr10:42646111-42646161	CMK	blood:	n/a
50	chr10:42646111-42646161	U87	brain:	n/a

No data

Variant related genes	Relation type
KSR1P1	TF binding region
KSR1P1	CpG island

Extended variants
information (count: 492 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200312132	chr10:42644254-42644255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs199665152	chr10:42644256-42644257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200672089	chr10:42644259-42644260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533835476	chr10:42644266-42644267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs199511117	chr10:42644269-42644270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs35546949	chr10:42644270-42644271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs34575017	chr10:42644273-42644274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs200932511	chr10:42644281-42644282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs200693957	chr10:42644301-42644302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568051934	chr10:42644302-42644303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535870281	chr10:42644307-42644308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184080316	chr10:42644331-42644332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs556067303	chr10:42644336-42644337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575834559	chr10:42644338-42644339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs538462096	chr10:42644354-42644355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs61847199	chr10:42644359-42644360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs199928138	chr10:42644360-42644361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs74135533	chr10:42644387-42644388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557904433	chr10:42644396-42644397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs35491428	chr10:42644401-42644402	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540289871	chr10:42644413-42644414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77551974	chr10:42644418-42644419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs373762820	chr10:42644425-42644426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs560209458	chr10:42644429-42644430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573737098	chr10:42644443-42644444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs542638725	chr10:42644445-42644446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112643699	chr10:42644461-42644462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77724553	chr10:42644469-42644470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs562828135	chr10:42644470-42644471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs531476719	chr10:42644472-42644473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs74681824	chr10:42644479-42644480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs76361445	chr10:42644489-42644490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs111414078	chr10:42644490-42644491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs74135534	chr10:42644494-42644495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs78308609	chr10:42644495-42644496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551566315	chr10:42644502-42644503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs74193890	chr10:42644504-42644505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs202207924	chr10:42644509-42644510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs55825462	chr10:42644510-42644511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs527382610	chr10:42644513-42644514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs77867285	chr10:42644525-42644526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs34713197	chr10:42644526-42644527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191386003	chr10:42644539-42644540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs567363079	chr10:42644540-42644541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs71503943	chr10:42644546-42644547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs75755869	chr10:42644552-42644553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs74768191	chr10:42644564-42644565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs75103246	chr10:42644565-42644566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78409508	chr10:42644571-42644572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs77203492	chr10:42644572-42644573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42640000-42644600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr10:42640400-42644800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr10:42640600-42646400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:42641000-42645400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr10:42643400-42645200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:42643400-42645800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr10:42643600-42645000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr10:42643600-42645200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr10:42643600-42646000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:42643600-42646000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:42643600-42646200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:42643800-42646400	ZNF genes & repeats	Fetal Stomach	stomach
13	chr10:42644000-42645400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr10:42644000-42646000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:42644000-42646600	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr10:42644200-42644600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
17	chr10:42644200-42644800	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr10:42644200-42645200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr10:42644200-42645400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr10:42644200-42645600	ZNF genes & repeats	Thymus	Thymus
21	chr10:42644200-42646000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr10:42644200-42646200	ZNF genes & repeats	Lung	lung
23	chr10:42644200-42646400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:42644400-42645400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:42644400-42645600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr10:42644400-42645800	ZNF genes & repeats	Colonic Mucosa	Colon
27	chr10:42644400-42645800	ZNF genes & repeats	Spleen	Spleen
28	chr10:42644400-42646600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:42644400-42646600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
30	chr10:42644400-42646600	ZNF genes & repeats	Pancreas	Pancrea
31	chr10:42644600-42645800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:42644600-42645800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:42644600-42646000	ZNF genes & repeats	Ovary	ovary
34	chr10:42644800-42645200	Bivalent Enhancer	Placenta	Placenta
35	chr10:42644800-42646200	Active TSS	Primary T cells from cord blood	blood
36	chr10:42644800-42646400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr10:42645000-42645400	ZNF genes & repeats	HMEC	breast
38	chr10:42645000-42645800	Bivalent/Poised TSS	Right Ventricle	heart
39	chr10:42645000-42645800	Bivalent/Poised TSS	A549	lung
40	chr10:42645000-42646400	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr10:42645200-42645400	Flanking Bivalent TSS/Enh	Placenta	Placenta
42	chr10:42645200-42645800	ZNF genes & repeats	HUVEC	blood vessel
43	chr10:42645200-42646200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
44	chr10:42645200-42646200	Active TSS	Osteobl	bone
45	chr10:42645200-42646400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
46	chr10:42645400-42645600	Bivalent Enhancer	Placenta	Placenta
47	chr10:42645400-42645600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
48	chr10:42645600-42645800	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr10:42645600-42646400	Active TSS	Stomach Smooth Muscle	stomach
50	chr10:42645800-42646000	Bivalent Enhancer	Placenta	Placenta

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